Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
<h4>Background</h4>Dysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary defect in some other gene....
Guardado en:
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2011
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/a2790daf220b462ebf310415059896be |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:a2790daf220b462ebf310415059896be |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:a2790daf220b462ebf310415059896be2021-11-18T07:31:55ZComparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.1932-620310.1371/journal.pone.0029061https://doaj.org/article/a2790daf220b462ebf310415059896be2011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22194990/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Dysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary defect in some other gene. Dysferlin is also expressed in peripheral blood monocytes (PBM). Studying dysferlin in monocytes is used for the diagnosis of dysferlin myopathies. The aim of the study was to determine whether dysferlin expression in PBM correlates with that in skeletal muscle.<h4>Methodology/principal findings</h4>Using western-blot (WB) we quantified dysferlin expression in PBM from 21 pathological controls with other myopathies in whom mutations in DYSF were excluded and from 17 patients who had dysferlinopathy and two mutations in DYSF. Results were compared with protein expression in muscle by WB and immunohistochemistry (IH). We found a good correlation between skeletal muscle and monocytes using WB. However, IH results were misleading because abnormal expression of dysferlin was also observed in 13/21 pathological controls.<h4>Conclusions/significance</h4>The analysis of dysferlin protein expression in PBM is helpful when: 1) the skeletal muscle IH pattern is abnormal or 2) when muscle WB can not be performed either because muscle sample is lacking or insufficient or because the muscle biopsy is taken from a muscle at an end-stage and it mainly consists of fat and fibrotic tissue.Eduard GallardoNoemi de LunaJordi Diaz-ManeraRicardo Rojas-GarcíaLidia Gonzalez-QueredaBàrbara FlixAntoine de MorréeSilvère van der MaarelIsabel IllaPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 12, p e29061 (2011) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Eduard Gallardo Noemi de Luna Jordi Diaz-Manera Ricardo Rojas-García Lidia Gonzalez-Quereda Bàrbara Flix Antoine de Morrée Silvère van der Maarel Isabel Illa Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| description |
<h4>Background</h4>Dysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary defect in some other gene. Dysferlin is also expressed in peripheral blood monocytes (PBM). Studying dysferlin in monocytes is used for the diagnosis of dysferlin myopathies. The aim of the study was to determine whether dysferlin expression in PBM correlates with that in skeletal muscle.<h4>Methodology/principal findings</h4>Using western-blot (WB) we quantified dysferlin expression in PBM from 21 pathological controls with other myopathies in whom mutations in DYSF were excluded and from 17 patients who had dysferlinopathy and two mutations in DYSF. Results were compared with protein expression in muscle by WB and immunohistochemistry (IH). We found a good correlation between skeletal muscle and monocytes using WB. However, IH results were misleading because abnormal expression of dysferlin was also observed in 13/21 pathological controls.<h4>Conclusions/significance</h4>The analysis of dysferlin protein expression in PBM is helpful when: 1) the skeletal muscle IH pattern is abnormal or 2) when muscle WB can not be performed either because muscle sample is lacking or insufficient or because the muscle biopsy is taken from a muscle at an end-stage and it mainly consists of fat and fibrotic tissue. |
| format |
article |
| author |
Eduard Gallardo Noemi de Luna Jordi Diaz-Manera Ricardo Rojas-García Lidia Gonzalez-Quereda Bàrbara Flix Antoine de Morrée Silvère van der Maarel Isabel Illa |
| author_facet |
Eduard Gallardo Noemi de Luna Jordi Diaz-Manera Ricardo Rojas-García Lidia Gonzalez-Quereda Bàrbara Flix Antoine de Morrée Silvère van der Maarel Isabel Illa |
| author_sort |
Eduard Gallardo |
| title |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| title_short |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| title_full |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| title_fullStr |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| title_full_unstemmed |
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| title_sort |
comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2011 |
| url |
https://doaj.org/article/a2790daf220b462ebf310415059896be |
| work_keys_str_mv |
AT eduardgallardo comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT noemideluna comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT jordidiazmanera comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT ricardorojasgarcia comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT lidiagonzalezquereda comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT barbaraflix comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT antoinedemorree comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT silverevandermaarel comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy AT isabelilla comparisonofdysferlinexpressioninhumanskeletalmusclewiththatinmonocytesforthediagnosisofdysferlinmyopathy |
| _version_ |
1718423304600027136 |